[1]张彦军 郭铁峰△ 杜凯然 刘晓雪 罗林钊 李佳明.两种基因多态性与退行性腰椎管狭窄症的关联性分析[J].中国中医骨伤科杂志,2021,29(08):34-38.
　ZHANG Yanjun GUO Tiefeng DU Kairan LIU XiaoxueLUO Linzhao LI Jiaming.Study on the Association between Two Gene Polymorphismand Degenerative Lumbar Spinal Stenosis[J].Chinese Journal of Traditional Medical Traumatology & Orthopedics,2021,29(08):34-38.
点击复制

两种基因多态性与退行性腰椎管狭窄症的关联性分析()
分享到：

《中国中医骨伤科杂志》[ISSN:1005-0205/CN:42-1340/R]

卷:
第29卷
期数:
2021年08期
页码:
34-38
栏目:
临床研究
出版日期:
2021-08-15

文章信息/Info

Title:
Study on the Association between Two Gene Polymorphismand Degenerative Lumbar Spinal Stenosis
文章编号:
1005-0205(2021)08-0034-05
作者:
张彦军1 郭铁峰1△ 杜凯然2 刘晓雪2 罗林钊2 李佳明2
1甘肃省中医院(兰州,730050)2甘肃中医药大学
Author(s):
ZHANG Yanjun1 GUO Tiefeng1△ DU Kairan2 LIU Xiaoxue2LUO Linzhao2 LI Jiaming2
1Gansu Hospital of Traditional Chinese Medicine,Lanzhou 730050,China; 2Gansu University of Traditional Chinese Medicine,Lanzhou 730013,China.
关键词:
基因多态性;  腰椎管狭窄症;  肝肾亏虚型;  关联性;  治疗靶点
Keywords:
genetic polymorphism;  lumbar spinal stenosis;  liver and kidney deficiency;  correlation between;  therapeutic targets
分类号:
R681.5
文献标志码:
A
摘要:
目的:分析腰椎管狭窄症(Lumbar Spinal Stenosis,LSS)高发体质类型肝肾亏虚型与COL11A1、HBOX4位点多态性的相关性。方法:根据诊断和排除标准,随机抽取甘肃省中医院脊柱骨二科2016年6月至2018年6月门诊和住院治疗的退行性腰椎管狭窄症患者80例为病例组,以来自甘肃省中医院脊柱骨二科门诊的80例非腰椎退行性疾患患者为对照组,与病例组匹配,其中肝肾亏虚型35例,非肝肾亏虚型45例。抽取外周血2 mL作为检测样本,提取DNA,对PCR产物进行DNA测序,检测COL11A1、HBOX4基因的2个位点(即rs1676486、rs520540位点),进行统计学分析。结果:COL11A1的rs1676486与等位基因频率病例组高于对照组(P<0.05),可能是导致腰椎管狭窄症的危险因素之一; 对照组HBOX4的rs520540位点CT、TT、CC基因表达病例组低于对照组(P<0.05),可能是预防腰椎管狭窄症的因素之一。结论:COL11A1基因与6p21.3C/G位点多态性与腰椎管狭窄症之间存在一定关联性。选取COL11A1的一个SNP位点rs14637185,发现腰椎管狭窄患者的COL11A1基因型频率和等位基因型频率均高于非腰椎疾患的患者,但从中继续深入研究发现COL11A1、HBOX4基因的多态性与肝肾亏虚型腰椎管狭窄症患者存在一定相关性; HBOX4位于17q21的rs520540位点CT、TT、CC上调能够降低腰椎管狭窄症的发病率,将为治疗腰椎退行性病变提供新的治疗靶点。
Abstract:
To investigate the correlation between lumbar spinal stenosis and high case type of liver and kidney deficiency and the polymorphism of COL11A1 and HBOX4.Methods:Research objects were selected according to the diagnosis and exclusion criteria.80 patients with degenerative lumbar spinal stenosis were randomly selected as the study group from June 2016 to June 2018 in hospital.80 patients with non-lumbar degenerative diseases from hospital were taken as the control group and matched with case group,and there were 35 cases of liver and kidney deficiency type and 45 cases of liver and kidney deficiency type.2 mL peripheral blood was extracted as the detection sample.DNA was extracted.DNA sequencing was performed on PCR products,and two loci of COL11A1 and HBOX4 genes,namely rs1676486 and rs520540,were detected for statistical analysis.Results:rs1676486 and allele frequency of COL11A1 in the case group were higher than those in the control group(P<0.05),which may be one of the risk factors for lumbar spinal stenosis.The expression of CT,TT and CC genes at rs520540 of HBOX4 was lower in the experimental group than in the control group(P<0.05),which may be one of the factors for the prevention of lumbar spinal stenosis.Conclusion:There is a certain correlation between COL11A1 gene and 6P21.3C/G polymorphism and lumbar spinal stenosis.The SNP locus of COL11A1,rs14637185 is selected,and it is found that the frequency of COL11A1 genotype and allelic genotype in patients with lumbar spinal stenosis are higher than that in those without lumbar diseases.However,further studies find that polymorphisms of COL11A1 and HBOX4 genes are correlated with patients with lumbar spinal stenosis with liver-kidney deficiency.Up-regulation of CT,TT and CC at rs520540 of HBOX4 at 17q21 can reduce the incidence of lumbar spinal stenosis,which will provide a new therapeutic target for the treatment of lumbar degenerative diseases.

参考文献/References:

[1] 唐汉武,林一峰.退行性腰椎管狭窄症的中医病因病机研究综述[J].中国中医骨伤科杂志,2014,22(4):78-80.
[2] SAETIA K,CHO D,LEE S,et al.Ossification of the posterior longitudinal ligament:a review[J].Neurosurg Focus,2011,30(3):E1.
[3] KARASUGI T,NAKAJIMA M,IKARI K,et al.A genome-wide sib-pair linkage analysis of ossification of the posterior longitudinal ligament of the spine[J].J Bone Miner Metab,2013,31(2):136-143.
[4] 周宾宾,李玉文,蔡乐乐,等.腰椎管狭窄症中医证型规范化的探讨[J].时珍国医国药,2009,20(12):3176-3177.
[5] 朱文锋.中医诊断学[M].6版.上海:上海科学技术出版社,1995:117.
[6] 倪娜,刘文婷,魏威,等.颈椎后纵韧带骨化症与COL11A2等基因多态性的关联性分析[J].中国优生与遗传杂志,2013,21(10):16-19.
[7] ANASTASSIOU D.Comment on “A COL11A1-correlated pan-cancer gene signature of activated fibroblasts for the prioritization of therapeutic targets”[J].Cancer Lett,2016,382(2):203-214.
[8] 李盛华,周明旺,郭铁峰,等.血瘀质非创伤性股骨头坏死基因多态性研究[J].中国中医药信息杂志,2016,23(11):17-21.
[9] PING Y S,HUNG L K,YAN F W,et al.A DNA pooling-based case-control study of myopia candidate genes COL11A1,COL18A1,FBN1,and PLOD1 in a Chinese population[J].Molecular Vision,2011,17:810-821.
[10] DEER T,SAYED D,MICHELS J,et al.A review of lumbar spinal stenosis with intermittent neurogenic claudication:disease and diagnosis[J].Pain Med,2019,20(Suppl 2):S32-S44.
[11] LEE S Y,KIM T H,OH J K,et al.Lumbar stenosis:a recent update by review of literature[J].Asian Spine Journal,2015,9(5):818-828.
[12] 张彦军,李军杰,邓强,等.活血通督汤联合手术治疗退行性腰椎管狭窄症的临床研究[J].中国中医骨伤科杂志,2018,26(2):37-40.
[13] WU H,WANG S,CHEN W,et al.Collagen Ⅸ gene polymorphisms and lumbar disc degeneration:a systematic review and meta-analysis[J].J Orthop Surg Res,2018,13(1):47.
[14] HIGASHINO K,MATSUI Y,YAGI S,et al.The alpha2 type Ⅸ collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine[J].Int Orthop,2007,31(1):107-111.
[15] WANG C J,IIDA K,EGUSA H,et al.Trabecular bone deterioration in col9a1+/-mice associated with enlarged osteoclasts adhered to collagen Ⅸ-deficient bone[J].J Bone Miner Res,2008,23(6):837-849.
[16] JIANG H,YANG Q,JIANG J,et al.Association between COL11A1(rs1337185)and ADAMTS5(rs162509)gene polymorphisms and lumbar spine pathologies in Chinese Han population:an observational study[J].BMJ Open,2017,7(5):e015644.
[17] 冯晓杰,李雷.干扰COL11A1基因表达对人卵巢癌细胞侵袭及耐药性影响[J].中华肿瘤防治杂志,2019,26(13):908-916.
[18] SEPPANEN A.Collagen ⅩⅦ:a shared antigen in neurodermatological interactions[J].Clin Dev Immunol,2013:240-570.
[19] WATANABE M,NATSUGA K,NISHIE W,et al.Type ⅩⅦ collagen coordinates proliferation in the interfollicular epidermis[J].Elife,2017,6:e26635.
[20] ASAKA T,AKIYAMA M,DOMON T,et al.Type ⅩⅦ collagen is a key player in tooth enamel formation[J].Am J Pathol,2009,174(1):91-100.
[21] WANG P,TENG Z,LIU X,et al.The COL6A1 rs201153092 single nucleotide polymorphism,associates with thoracic ossification of the posterior longitudinal ligament[J].Mol Med Rep,2020,21(1):191-200.

备注/Memo

备注/Memo:
基金项目:甘肃省卫生行业科研基金(GSWSKY2016-01)
△通信作者 E-mail:923433675@qq.com
更新日期/Last Update: 2021-08-15